Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
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Ошибки и ограничения
История · было → стало
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Legius Eric, Messiaen Ludwine, Wolkenstein Pierre, Pancza Patrice, Avery Robert A, Berman Yemima, Blakeley Jaishri, Babovic-Vuksanovic Dusica, Cunha Karin Soares, Ferner Rosalie, Fisher Michael J, Friedman Jan M, Gutmann David H, Kehrer-Sawatzki Hildegard, Korf Bruce R, Mautner Victor-Felix, Peltonen Sirkku, Rauen Katherine A, Riccardi Vincent, Schorry Elizabeth, Stemmer-Rachamimov Anat, Stevenson David A, Tadini Gianluca, Ullrich Nicole J, Viskochil David, Wimmer Katharina, Yohay Kaleb, International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson Susan M, Evans D Gareth, Plotkin Scott R
Аннотация
METHODS: We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups.
RESULTS: We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.
CONCLUSION: The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.